1.
Mol Genet Metab
; 66(4): 245-7, 1999 Apr.
Article
in English
| MEDLINE
| ID: mdl-10191109
ABSTRACT
Two distinct clinical subtypes of neuronal ceroid lipofuscinosis caused by mutations in the PPT gene, INCL and vJNCL/GROD, occur at a high frequency in the central region of Scotland. In this paper we summarize the clinical details and the molecular basis underlying the disease in the Scottish patients. Comparison of the combination of mutations in the different clinical types reveals a clear genotype-phenotype correlation.
Subject(s)
Neuronal Ceroid-Lipofuscinoses/etiology , Neuronal Ceroid-Lipofuscinoses/genetics , Adolescent , Adult , Age of Onset , Child , Child, Preschool , Codon, Terminator , DNA Mutational Analysis , Genotype , Humans , Infant , Phenotype , Scotland
2.
Clin Chem
; 38(1): 104-7, 1992 Jan.
Article
in English
| MEDLINE
| ID: mdl-1733579
